ABHD8 — 45 ClinVar variants
All ClinVar germline ABHD8 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 44 flagged for review →
1 Benign · 44 Uncertain significance
Full ABHD8 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 44
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors lean, ClinVar uncertain 22
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ABHD8 p.Ala136Thr Uncertain significance Single submitter
- ABHD8 p.Ala236Thr Uncertain significance Single submitter
- ABHD8 p.Ala319Asp Uncertain significance Single submitter
- ABHD8 p.Ala426Pro Uncertain significance Single submitter
- ABHD8 p.Ala63Pro Uncertain significance Single submitter
- ABHD8 p.Arg100Pro Uncertain significance Single submitter
- ABHD8 p.Arg240His Uncertain significance Single submitter
- ABHD8 p.Arg316Ser Uncertain significance Single submitter
- ABHD8 p.Arg80His Uncertain significance Single submitter
- ABHD8 p.Asp209Gly Uncertain significance Single submitter
- ABHD8 p.Cys11Ser Uncertain significance Single submitter
- ABHD8 p.Glu421Ala Uncertain significance Single submitter
- ABHD8 p.Gly254Cys Uncertain significance Single submitter
- ABHD8 p.Leu392Pro Uncertain significance Single submitter
- ABHD8 p.Leu417Pro Uncertain significance Single submitter
- ABHD8 p.Met368Val Uncertain significance Single submitter
- ABHD8 p.Pro124Leu Uncertain significance Single submitter
- ABHD8 p.Pro17Ser Uncertain significance Single submitter
- ABHD8 p.Pro374Leu Uncertain significance Single submitter
- ABHD8 p.Ser26Thr Uncertain significance Single submitter
- ABHD8 p.Ser423Ala Uncertain significance Single submitter
- ABHD8 p.Val43Leu Uncertain significance Single submitter
Predictors split 22
The independent predictors disagree with each other — read with care.
- ABHD8 p.Ala215Val Uncertain significance Single submitter
- ABHD8 p.Ala218Val Uncertain significance Single submitter
- ABHD8 p.Ala319Gly Uncertain significance Single submitter
- ABHD8 p.Arg130Cys Uncertain significance Single submitter
- ABHD8 p.Arg81Trp Uncertain significance Single submitter
- ABHD8 p.Arg86His Uncertain significance Single submitter
- ABHD8 p.Arg86Leu Uncertain significance Single submitter
- ABHD8 p.Asp123Tyr Uncertain significance Single submitter
- ABHD8 p.Asp394Asn Uncertain significance Single submitter
- ABHD8 p.Glu118Lys Uncertain significance Single submitter
- ABHD8 p.Glu419Asp Uncertain significance Single submitter
- ABHD8 p.Gly126Val Uncertain significance Single submitter
- ABHD8 p.Gly134Asp Uncertain significance Single submitter
- ABHD8 p.Gly139Ser Uncertain significance Single submitter
- ABHD8 p.Gly141Ser Uncertain significance Single submitter
- ABHD8 p.Gly344Ser Uncertain significance Single submitter
- ABHD8 p.Ile181Phe Uncertain significance Single submitter
- ABHD8 p.Lys320Asn Uncertain significance Single submitter
- ABHD8 p.Phe198Leu Uncertain significance Single submitter
- ABHD8 p.Phe260Leu Uncertain significance Single submitter
- ABHD8 p.Pro422Ser Uncertain significance Single submitter
- ABHD8 p.Val333Leu Uncertain significance Single submitter
All ABHD8 variants
Benign 1
- p.Ala20= Multiple submitters
Uncertain significance 44
- p.Ala136Thr Single submitter ⚠
- p.Ala215Val Single submitter ⚠
- p.Ala218Val Single submitter ⚠
- p.Ala236Thr Single submitter ⚠
- p.Ala319Asp Single submitter ⚠
- p.Ala319Gly Single submitter ⚠
- p.Ala426Pro Single submitter ⚠
- p.Ala63Pro Single submitter ⚠
- p.Arg100Pro Single submitter ⚠
- p.Arg130Cys Single submitter ⚠
- p.Arg240His Single submitter ⚠
- p.Arg316Ser Single submitter ⚠
- p.Arg80His Single submitter ⚠
- p.Arg81Trp Single submitter ⚠
- p.Arg86His Single submitter ⚠
- p.Arg86Leu Single submitter ⚠
- p.Asp123Tyr Single submitter ⚠
- p.Asp209Gly Single submitter ⚠
- p.Asp394Asn Single submitter ⚠
- p.Cys11Ser Single submitter ⚠
- p.Glu118Lys Single submitter ⚠
- p.Glu419Asp Single submitter ⚠
- p.Glu421Ala Single submitter ⚠
- p.Gly126Val Single submitter ⚠
- p.Gly134Asp Single submitter ⚠
- p.Gly139Ser Single submitter ⚠
- p.Gly141Ser Single submitter ⚠
- p.Gly254Cys Single submitter ⚠
- p.Gly344Ser Single submitter ⚠
- p.Ile181Phe Single submitter ⚠
- p.Leu392Pro Single submitter ⚠
- p.Leu417Pro Single submitter ⚠
- p.Lys320Asn Single submitter ⚠
- p.Met368Val Single submitter ⚠
- p.Phe198Leu Single submitter ⚠
- p.Phe260Leu Single submitter ⚠
- p.Pro124Leu Single submitter ⚠
- p.Pro17Ser Single submitter ⚠
- p.Pro374Leu Single submitter ⚠
- p.Pro422Ser Single submitter ⚠
- p.Ser26Thr Single submitter ⚠
- p.Ser423Ala Single submitter ⚠
- p.Val333Leu Single submitter ⚠
- p.Val43Leu Single submitter ⚠